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Symbol
Name
ID
Spr
sepiapterin reductase
MGI:103078
Phenotype annotations related to homeostasis/metabolism
Darker colors indicate more annotations
Human Phenotypes
Hyperphenylalaninemia
Transient hyperphenylalaninemia
Abnormal circulating biopterin concentration
Abnormal circulating neopterin concentration
Reduced sepiapterin reductase activity in cultured fibroblasts
Temperature instability
Disease(s) Associated with SPR
sepiapterin reductase deficiency

Mouse Phenotypes
increased circulating phenylalanine level
decreased phenylalanine level
decreased circulating insulin-like growth factor I level
decreased dopamine level
decreased noradrenaline level
abnormal enzyme/coenzyme level
abnormal biopterin level
abnormal neopterin level
decreased serotonin level
Availability Mouse Genotype
Sprtm1Lex/Sprtm1Lex
Sprtm1Spo/Sprtm1Spo

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
05/07/2024
MGI 6.23
The Jackson Laboratory